RGD:8690440 Rat Genome Database

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Variant: RGD:8690440 -  Homo sapiens

RGD ID: 8690440
RS ID: rs2232776
ClinVar ID: CV140390
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD320  LOC127890352  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 8,373,023
GRCh38 19 8,308,139
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028124.1:g.5218G>C
NC_000019.10:g.8308139C>G
NC_000019.9:g.8373023C>G
NM_001165895.2:c.142+10G>C
More... 		11/26/2013 intron variant benign AllHighlyPenetrant; METHYLMALONIC ACIDEMIA, TCblR TYPE; Methylmalonic aciduria due to transcobalamin receptor defect; METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CD320
Accession:NM_016579
Location:INTRON

Gene Symbol:CD320
Accession:NM_001165895
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000124170 CLINVAR
  RCV001523336 CLINVAR
dbSNP (RS) rs2232776 CLINVAR
MedGen C4749905 CLINVAR
  CN169374 CLINVAR
NCBI Gene CD320 CLINVAR
OMIM 606475 CLINVAR
  613646 CLINVAR